Two novel mutations of the AIRE protein affecting its homodimerization properties

Meloni A;FIORILLO, EDOARDO;Corda D;Perniola R;Cao A;ROSATELLI, MARIA CRISTINA

2005-01-01

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Abstract

We report two novel mutations, c.230T>C (p.F77S) and c.64_69del (p.V22_D23del) within the HSR domain of the AIRE protein in two patients of Italian descent affected by APECED. Both mutations were found in the compound heterozygous state respectively with c.994+5G>T and c.232T>A (p.W78R). With the two-hybrid assay in the yeast system we found that constructs containing the two mutations fail to interact with the wild-type protein. These findings indicate that both mutations negatively affected the homodimerization properties of the AIRE protein, thereby leading to a defective function.